Rivas F, Fragoso R, Ramos-Zepeda R, Vaca G, Hernandez A, Gonzalez-Quiroga G, Olivares N, Cantu J M
Acta Paediatr Scand. 1980 Jan;69(1):123-5. doi: 10.1111/j.1651-2227.1980.tb07044.x.
A boy aged 2 years 8 months presenting the Rubinstein-Taybi Syndrome (RTS) and a history of recurrent gastrointestinal and respiratory infections was studied. Partial deficient cell immunity and intermittent hyperaminoacidemia and aminoaciduria were ascertained. These findings were interpreted as evidence of phenotypic and probably genetic heterogeneity of RTS.
对一名2岁8个月大、患有鲁宾斯坦-泰比综合征（RTS）且有反复胃肠道和呼吸道感染病史的男孩进行了研究。确定存在部分细胞免疫缺陷、间歇性高氨基酸血症和氨基酸尿症。这些发现被解释为RTS表型和可能的基因异质性的证据。
